Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.

Abstract excerpt

SLC39A8 encodes ZIP8, a divalent metal ion transporter. Mutations in the SLC39A8 gene are associated with congenital disorder of glycosylation type II and Leigh syndrome. Notably, affected patients with both disorders exhibited severe manganese (Mn) deficiency. The cellular function of human SLC39A8 (hSLC39A8) and the mechanisms by which mutations in this protein lead to human diseases are unclear. Herein, we...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biological Transport
• Share to Cation Transport Proteins